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Menkes病一家系二例 被引量:3

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出处 《中华医学遗传学杂志》 CAS CSCD 2001年第4期258-258,共1页 Chinese Journal of Medical Genetics
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同被引文献43

  • 1刘芬.Menkes综合征三例报告[J].天津医药,1984(4):237-238. 被引量:1
  • 2高晶,郭玉璞,高淑芳,张振馨,黄惠芬,任海涛,赵艳环.Menkes病的临床及病理[J].中国现代神经疾病杂志,2006,6(3):188-193. 被引量:10
  • 3张宗昊.Menkes病[M]//吴希如,林庆.小儿神经系统疾病基础与临床.北京:人民卫生出版社,2000:486-487.
  • 4Boustany RM, Zucker A. Degenerative disease primarily of gray matter [M]//Swaiman KF, Ashwal S, Ferriero DM. Pediatric neurology: Principles and practice. 4th ed. Mosbyi Elsevier, 2006 : 1320-1339.
  • 5Bahi-Buisson N, Kaminska A, Nabbout R, et al. Epilepsy in Menkes disease: analysis of clinical stages [J]. Epilepsia, 2006, 47(2) :380-386.
  • 6Gasch AT, Caruso RC, Kaler SG, et al. Menkes' syndrome: ophthahnic findings [J]. Ophthalmology,2002,109 (8) : 1477 - 1483.
  • 7Gu YH, Kodama H, Sato E, et al. Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement [J]. Brain Dev, 2002,24(7) :715-718.
  • 8Kaler SG, Holmes CS, Goldstein DS, et al. Neonatal diagnosis and treatment of Menkes disease [J]. N Engl J Med, 2008,358 (6) :605-614.
  • 9Menkes JH, Aher M, Steigleder GK, et al. A sex-linked recessive disorder with retardation of growth, peculiar hair and focalcerebral and cerebellar degeneration[J]. Pediatrics, 1962, 29 (5): 764-779.
  • 10Gu H, Kodama H, Shiga K, et al. A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis[J]. J Inherit Metab Dis, 2005, 28 (4): 473-478.

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